title: 17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.
abstract: We report the case of a 26-month-old boy with mental retardation, facial dysmorphism, childhood feeding difficulties, short stature, bilateral cryptorchidism, micropenis, and heart defect. Endocrinal evaluation revealed complete growth hormone deficiency (GHD) and gonadotropic deficiency, and pituitary magnetic resonance imaging showed partial pituitary stalk interruption syndrome (PSIS). A de novo 493 kb microdeletion on chromosome 17q21.31 was identified using array comparative genomic hybridization (array-CGH) analysis. This is the first report of PSIS in the phenotypical spectrum of 17q21.31 microdeletion syndrome, although other midline abnormalities have previously been described. Our report suggests that GHD should be investigated in patients with 17q21.31 microdeletion syndrome and short stature, defined by a body height below - 2 standard deviation scores (SDS) for age and sex. This finding also opens new avenues of research on the etiopathogenesis of PSIS, for which the genetic mechanisms remain unknown.
authors.affiliation: Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU de Dijon, France.
authors.forename: Salima
authors.initials: S
authors.lastname: El Chehadeh-Djebbar
authors.forename: Patrick
authors.initials: P
authors.lastname: Callier
authors.forename: Alice
authors.initials: A
authors.lastname: Masurel-Paulet
authors.forename: Candace
authors.initials: C
authors.lastname: Bensignor
authors.forename: Nathalie
authors.initials: N
authors.lastname: Méjean
authors.forename: Muriel
authors.initials: M
authors.lastname: Payet
authors.forename: Clémence
authors.initials: C
authors.lastname: Ragon
authors.forename: Christine
authors.initials: C
authors.lastname: Durand
authors.forename: Nathalie
authors.initials: N
authors.lastname: Marle
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Mosca-Boidron
authors.forename: Frédéric
authors.initials: F
authors.lastname: Huet
authors.forename: Francine
authors.initials: F
authors.lastname: Mugneret
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Christel
authors.initials: C
authors.lastname: Thauvin-Robinet
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005145:Face / Q000002:abnormalities; D005837:Genitalia, Male / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D010902:Pituitary Gland / Q000002:abnormalities*; D013577:Syndrome